This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for ZFPM2:c.1632G>A, p.Met544Ile

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
106813942	105801714

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1632G>A

PROTEIN CHANGE

p.Met544Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003376	0.0005204	0.00281	0.003483	0.0	0.005445	0.004869	0.002976	0.0005555

ESP
AA	EA
0.0002593	0.004977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.247745	None

DBSNP ID

1 combination linked to ZFPM2:c.1632G>A, p.Met544Ile

1 disease linked to ZFPM2:c.1632G>A, p.Met544Ile

46,XY disorder of sex development

Found any issues with the data on this page? Report this entry.